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11q trisomy detected by fluorescence in situ hybridization
Authors:Takako Takano  Yasuko Yamanouchi  Shoko Kawashima  Masatsune Date  Shintaro Hashira  Mitsushiro Kida  Toshiaki Abe  Yutaka Nakahori  Yasuo Nakagome
Affiliation:Departments of Hygiene &Public Health, Tokyo;Pediatrics, Teikyo University School of Medicine, Tokyo;Department of Human Genetics, School of International Health, University of Tokyo, Tokyo, Japan
Abstract:
Takano T, Yamanouchi Y, Kawashima S, Date M, Hashira S, Kida M, Abe T, Nakahori Y, Nakagome Y. 11q trisomy detected by fluorescence in situ hybridization. Clin Genet 1993: 44: 324–328. © Munksgaard, 1993 A patient with psychomotor developmental delay, multiple minor anomalies, congenital heart disease and left inguinal hernia is reported. His karyotype was 45,X/46,X,+mar (3 : 37 cells), and the marker chromosome was identified as t(Y;11) (q12;q14?) using fluorescence in situ hybridization and fluorescent chromosome painting. He was diagnosed as mosaic for de novo 11q trisomy.
Keywords:chromosome painting    fluorescence in situ hybridization    marker chromosome    11q trisomy
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